Co-inheritance of alpha+-thalassaemia and sickle trait results in specific effects on haematological parameters

Sammy Wambua1, Jedidah Mwacharo, Sophie Uyoga

  • 1Kenya Medical Research Institute/Wellcome Trust Programme, Centre for Geographic Medicine Research, Coast, PO Box 230, Kilifi District Hospital, Kilifi, Kenya.

Both the sickle cell trait (HbAS) and alpha(+)-thalassaemia are common in many tropical areas. While their individual haematological effects are well described, few studies describe their effects when inherited together. We present data from the Kenyan coast, which suggest that HbAS and alpha(+)-thalassaemia may interact to produce specific effects on haematological parameters. Overall, the difference in Hb concentrations between non-thalassaemics (alphaalpha/alphaalpha) and alpha(+)-thalassaemia homozygotes (-alpha/-alpha) was greater in non-HbAS (HbAA) (0.63 g/dl) than in HbAS children (0.25 g/dl). HbAS also ameliorated both the reduced mean cell volume and mean cell haemoglobin normally associated with the -alpha/-alpha genotype. Potential mechanisms and implications are discussed.

Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Pedigree Analysis01:35

Pedigree Analysis

Overview
Genetic Lingo01:11

Genetic Lingo

Overview
Bone Marrow Sampling and Transplants01:22

Bone Marrow Sampling and Transplants

Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.